MON-267 The Girl Who Never Cries: Allgrove Syndrome with Uncommon Cardiac Complication

Abstract

Background: Allgrove syndrome (triple A syndrome) is a rare autosomal recessive disorder. Cardinal features include: alacrima, adrenal insufficiency and achalasia. Presentation is variable and diagnosis often delayed. cardiac complications are not previously reported. Case-report: A 15-year-old Yemeni girl born to consanguineous parents. She Had normal developmental milestones but often had a poor appetite and lacked energy. At age of 4, Addison’s disease was diagnosed after a hypoglycemic seizure. Commenced on hydrocortisone and fludrocortisone (stopped 6 months prior to presentation) but she lost follow-up. At age of 7, she was diagnosed with mild cognitive impairment, requiring special education. At age of 15, she presented to our ED with abdominal pain, recurrent vomiting and weakness for 4 days. she was hypotensive. Examination revealed abnormal mentation, nasal speech, gingival and buccal hyperpigmentation, muscle wasting and systolic murmur at the apex area. Initial blood works suggest adrenal crisis and subclinical hypothyroidism. Intravenous fluids and hydrocortisone were initiated. ICU course was complicated with pulmonary edema and bilateral pleural effusion requiring intubation and ionotropic support. Thoracentesis revealed transudate fluid. Echo showed a severe tricuspid and mitral regurgitation with right-sided ventricular dysfunction and mild pericardial effusion. Diuretics were administrated and cardiologist recommend for mitral and tricuspid valve replacement. After extubation, her symptoms resolved but vomiting persisted. CT-chest showed dilated esophagus and achalasia was confirmed with barium swallow. She underwent balloon dilatation and vomiting resolved. Further history, confirmed absence of tears since birth but dismissed as normal. Genetic testing confirmed a homozygous loss of function variant of AAAS. She was discharged on hydrocortisone 15 mg/day and artificial tears (didn't require fludrocortisone). Follow-up: she dramatically improved and has been gaining weight since. Interestingly, follow-up Echo was normal.Conclusion: triple A syndrome is often an under diagnosed disease. It can be fatal if not promptly recognized and treated. isolated right sided heart failure with severe valvular regurgitation are secondary to acute adrenal crisis and can be managed medically with steroids replacement.